Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004127452 | SCV003605624 | uncertain significance | not specified | 2022-01-04 | criteria provided, single submitter | clinical testing | The c.1381C>T (p.L461F) alteration is located in exon 13 (coding exon 10) of the CEP250 gene. This alteration results from a C to T substitution at nucleotide position 1381, causing the leucine (L) at amino acid position 461 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |